Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability

Asadollahi, Reza; Oneda, Beatrice; Sheth, Frenny; Azzarello-Burri, Silvia; Baldinger, Rosa; Joset, Pascal; Latal, Beatrice; Knirsch, Walter; Desai, Soaham; Baumer, Alessandra; Houge, Gunnar; Andrieux, Joris; Rauch, Anita

doi:10.5167/uzh-88256

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Asadollahi, R., Oneda, B., Sheth, F., Azzarello-Burri, S., Baldinger, R., Joset, P., Latal, B., Knirsch, W., Desai, S., Baumer, A., Houge, G., Andrieux, J., & Rauch, A. (2013). Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability. European Journal of Human Genetics, 21(10), 1100–1104. https://doi.org/10.1038/ejhg.2013.17

Abstract

A chromosomal balanced translocation disrupting the MED13L (Mediator complex subunit13-like) gene, encoding a subunit of the Mediator complex, was previously associated with transposition of the great arteries (TGA) and intellectual disability (ID), and led to the identification of missense mutations in three patients with isolated TGA. Recently, a homozygous missense mutation in MED13L was found in two siblings with non-syndromic ID from a consanguineous family. Here, we describe for the first time, three patients with copy number ch